Gene
GNA11
G protein subunit alpha 11
- HGNC 4379↗(opens in a new tab)
- Ensembl gene ENSG00000088256↗(opens in a new tab)
- NCBI Gene 2767↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.3
- Coordinates
- Chromosome 19: 3,094,362–3,123,999 (GRCh38)
- Exons
- 7 exons across 29.6 kb
- Protein
- 359 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- FBH, FBH2, FHH2
- Previous symbols
- HHC2
- MANE Select transcript
- ENST00000078429.9NM_002067.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Inherited Parathyroid & Calcium-Sensing Disorders
- Familial hypocalciuric hypercalcaemiaAutosomal dominant
Lifelong, usually harmless mildly high blood calcium with low urine calcium, caused by reduced calcium sensing (CASR, GNA11, AP2S1).
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Recognising it avoids unnecessary parathyroid surgery, which does not cure it.
- Familial hypoparathyroidism
Low parathyroid hormone and low blood calcium, including autosomal dominant hypocalcaemia caused by overactive calcium sensing.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
In autosomal dominant hypocalcaemia, standard calcium and vitamin D treatment can worsen kidney calcium loss, so treatment needs specialist adjustment.
Thyroid Cancer
- Parathyroid Gland Disorder
A disease involving the parathyroid gland.
- 3 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How GNA11 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.2 kb of the gene's 29.6 kb; 1,080 of those bases code for the protein.
How a genome test reads GNA11
8
positions in GNA11 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 29.6 kb of GNA11, introns included, not only the 4.2 kb of exons.
Genes linked to the same conditions
- CASRcalcium sensing receptorShares 3 conditions
- GCM2GCM transcription factor 2Shares 2 conditions
- PTHparathyroid hormoneShares 2 conditions
- AIREautoimmune regulatorShares 1 condition
- AP2S1adaptor related protein complex 2 subunit sigma 1Shares 1 condition
- CDC73cell division cycle 73Shares 1 condition
- GNASGNAS complex locusShares 1 condition
- MEN1menin 1Shares 1 condition
- STX16syntaxin 16Shares 1 condition
- TRPV6transient receptor potential cation channel subfamily V member 6Shares 1 condition
Traits linked to GNA11
The Human Phenotype Ontology lists these as features of the rare conditions GNA11 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the integument
- Abnormality of the skin
- Skin erosion
- Abnormal fingernails
- Abnormality of the nail
- Absent/small skin
- Dry skin
- Hair loss
- Blue nevus
Show 2 more traits
Abnormality of the cardiovascular system
- Arteriovenous malformation
- Cutis marmorata
- Abnormal heart rate
- Low blood pressure
- Telangiectasia of the skin
- Cardiac failure
- Narrowing of an artery
- Patent ductus arteriosus
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). GNA11 gene: G protein subunit alpha 11. Retrieved 17 October 2026, from https://dantelabs.com/genes/gna11
Dante Labs. GNA11 gene: G protein subunit alpha 11 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gna11
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